A68V (p.Ala68Val) variant of MC4R (Melanocortin receptor 4)
A68V (p.Ala68Val) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MC4R-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- gnomAD rs1157101126
- UniProt VAR 091168
- Uncertain significance
- MC4R-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.51
- MetaLR 0.11
- MetaSVM -0.98
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (MC4R-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk. (PMID 41102563)